Canonical Allele Identifier: CA16620652

Linked Data

ClinVar Variation Id: 420956
dbSNP Id: rs1064794815

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210766C>T , CM000679.2:g.80210766C>T GRCh38
NC_000017.10:g.78184565C>T , CM000679.1:g.78184565C>T GRCh37
NC_000017.9:g.75799160C>T NCBI36
NG_008229.1:g.14635G>A
NG_032778.1:g.45775C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703570.1:n.2844+1508C>T (CARD14)
ENST00000326317.11:c.1195G>A (SGSH) MANE Select ENSP00000314606.6:p.Asp399Asn
ENST00000326317.10:c.1195G>A (SGSH) ENSP00000314606.6:p.Asp399Asn
ENST00000572257.5:c.551+1305G>A (SGSH)
ENST00000573150.5:c.*405G>A (SGSH) ENSP00000459280.1:n.*405G>A
ENST00000575282.5:n.4078G>A (SGSH)
ENST00000576856.1:c.449G>A (SGSH) ENSP00000460720.1:n.449G>A
NM_000199.3:c.1195G>A (SGSH) NP_000190.1:p.Asp399Asn
XM_005257583.3:c.949+1305G>A (SGSH) XP_005257640.1:n.949+1305G>A
NM_000199.4:c.1195G>A (SGSH) NP_000190.1:p.Asp399Asn
NM_001352921.1:c.*282G>A (SGSH) NP_001339850.1:n.*282G>A
NM_001352922.1:c.*245G>A (SGSH) NP_001339851.1:n.*245G>A
NR_148201.1:n.1176G>A (SGSH)
XM_005257583.4:c.949+1305G>A (SGSH) XP_005257640.1:n.949+1305G>A
XM_017024952.1:c.*1099G>A (SGSH) XP_016880441.1:n.*1099G>A
XR_001752585.1:n.1215G>A (SGSH)
XR_001752586.1:n.969+1305G>A (SGSH)
XR_001752587.1:n.969+1305G>A (SGSH)
XR_001752588.1:n.969+1305G>A (SGSH)
XR_001752589.1:n.969+1305G>A (SGSH)
XR_001752590.1:n.969+1305G>A (SGSH)
XR_001752591.1:n.969+1305G>A (SGSH)
XR_001752592.1:n.969+1305G>A (SGSH)
XR_002958057.1:n.1024+1103G>A (SGSH)
NM_000199.5:c.1195G>A (SGSH) MANE Select NP_000190.1:p.Asp399Asn
NM_001352921.2:c.*282G>A (SGSH) NP_001339850.1:n.*282G>A
NM_001352922.2:c.*245G>A (SGSH) NP_001339851.1:n.*245G>A
NR_148201.2:n.1109G>A (SGSH)
NM_001352921.3:c.*282G>A (SGSH) NP_001339850.1:n.*282G>A